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Encephalocraniocutaneous lipomatosis, Proteus syndrome, and somatic mosaicism

โœ Scribed by Rizzo, Renata ;Pavone, Lorenzo ;Micali, Giuseppe ;Nigro, Francesco ;Cohen, M. Michael

Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
269 KB
Volume
47
Category
Article
ISSN
0148-7299

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โœฆ Synopsis

We report on a patient with manifestations of encephalocraniocutaneous lipomatosis a n d Proteus syndrome. Further comparison with other reported patients demwstrates a continuum, not 2 distinct entities that share common manifestations. This continuum supports the concept of somatic mosaicism.

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I report 2 unusual cases of Proteus syndrome that support the concept of somatic mosaicism. In one patient, a huge connective tissue nevus covered the chest and abdomen and hyperostoses of the calvaria were observed. In the other patient, linear verrucous epidermal nevi, epibulbar dermoids, a n d hy